ClinVar Miner

Variants studied for bone benign neoplasm

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
11 10 15 10 2 4 49

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NSDHL 10 5 9 10 2 4 37
CTNNB1, LOC126806658 0 4 0 0 0 0 4
TSC1 0 0 2 0 0 0 2
APC 1 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 6 9 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 6 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 4 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Baylor Genetics 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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